MCID: GNT033
MIFTS: 31

Genetic Prion Diseases malady

Genetic diseases (common) category

Summaries for Genetic Prion Diseases

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MalaCards based summary: Genetic Prion Diseases, also known as spongiform encephalopathies, transmissible, is related to prion disease and creutzfeldt-jakob disease. An important gene associated with Genetic Prion Diseases is PRNP (prion protein). The compounds formate and guanidine have been mentioned in the context of this disorder. Related mouse phenotypes are other and muscle.

GeneReviews summary for prion

Aliases & Classifications for Genetic Prion Diseases

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Genetic Prion Diseases, Aliases & Descriptions:

Name: Genetic Prion Diseases 21 22 24
Spongiform Encephalopathies, Transmissible 62
 
Transmissible Spongiform Encephalopathies 21
Tses 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Genetic Prion Diseases

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Graphical network of the top 20 diseases related to Genetic Prion Diseases:



Diseases related to genetic prion diseases

Symptoms for Genetic Prion Diseases

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Drugs & Therapeutics for Genetic Prion Diseases

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Drug clinical trials:

Search ClinicalTrials for Genetic Prion Diseases

Search NIH Clinical Center for Genetic Prion Diseases

Genetic Tests for Genetic Prion Diseases

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Genetic tests related to Genetic Prion Diseases:

id Genetic test Affiliating Genes
1 Genetic Prion Diseases22 24 PRNP

Anatomical Context for Genetic Prion Diseases

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Animal Models for Genetic Prion Diseases or affiliated genes

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MGI Mouse Phenotypes related to Genetic Prion Diseases:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.4PRNP, APOE
2MP:00053698.7PRNP, APOE, HLA-DQB1
3MP:00053898.6PRNP, APOE, HLA-DQB1
4MP:00053978.5HLA-DQB1, APOE, PRNP
5MP:00053848.5PRNP, APOE, HLA-DQB1
6MP:00053868.4PRNP, APOE, HLA-DQB1
7MP:00053878.2HLA-DQB1, APOE, PRNP

Publications for Genetic Prion Diseases

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Articles related to Genetic Prion Diseases:

(show all 17)
idTitleAuthorsYear
1
Reduced cerebral blood flow in genetic prion disease with PRNP D178N-129M mutation: An arterial spin labeling MRI study. (25220284)
2014
2
Presence of voltage-gated potassium channel complex antibody in a case of genetic prion disease. (24903967)
2014
3
Reversible symptoms and clearance of mutant prion protein in an inducible model of a genetic prion disease in Drosophila melanogaster. (24686303)
2014
4
Ascertainment bias causes false signal of anticipation in genetic prion disease. (25279981)
2014
5
Genetic prion disease: no role for the immune system in disease pathogenesis? (25239861)
2014
6
PrP(ST), a soluble, protease resistant and truncated PrP form features in the pathogenesis of a genetic prion disease. (23922744)
2013
7
Epitope scanning indicates structural differences in brain-derived monomeric and aggregated mutant prion proteins related to genetic prion diseases. (23808898)
2013
8
Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases. (23555862)
2013
9
Copper is toxic to PrP-ablated mice and exacerbates disease in a mouse model of E200K genetic prion disease. (22198568)
2012
10
Activation of the macroautophagic system in scrapie-infected experimental animals and human genetic prion diseases. (22874564)
2012
11
Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings. (21232818)
2011
12
Genetic prion disease-associated myelodysplasia and SIADH in siblings. (22097952)
2011
13
Comprehensive neuropathologic analysis of genetic prion disease associated with the E196K mutation in PRNP reveals phenotypic heterogeneity. (21293298)
2011
14
ApoE distribution and family history in genetic prion diseases in Germany. (18157657)
2008
15
Genetic prion disease: the EUROCJD experience. (16187142)
2005
16
Transmissible and genetic prion diseases share a common pathway of neurodegeneration. (10617204)
1999
17
Genetic Prion Diseases (20301407)
1993

Variations for Genetic Prion Diseases

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Clinvar genetic disease variations for Genetic Prion Diseases:

7 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1PRNPNM_000311.3(PRNP): c.305C> T (p.Pro102Leu)single nucleotide variantPathogenicrs74315401GRCh37Chr 20, 4680171: 4680171
2PRNPNM_000311.3(PRNP): c.350C> T (p.Ala117Val)single nucleotide variantPathogenicrs74315402GRCh37Chr 20, 4680216: 4680216
3PRNPNM_000311.3(PRNP): c.598G> A (p.Glu200Lys)single nucleotide variantPathogenicrs28933385GRCh37Chr 20, 4680464: 4680464
4PRNPNM_000311.3(PRNP): c.532G> A (p.Asp178Asn)single nucleotide variantPathogenicrs74315403GRCh37Chr 20, 4680398: 4680398
5PRNPNM_000311.3(PRNP): c.593T> C (p.Phe198Ser)single nucleotide variantPathogenicrs74315405GRCh37Chr 20, 4680459: 4680459
6PRNPNM_000311.3(PRNP): c.650A> G (p.Gln217Arg)single nucleotide variantPathogenicrs74315406GRCh37Chr 20, 4680516: 4680516
7PRNPNM_000311.3(PRNP): c.628G> A (p.Val210Ile)single nucleotide variantPathogenicrs74315407GRCh37Chr 20, 4680494: 4680494
8PRNPNM_000311.3(PRNP): c.314C> T (p.Pro105Leu)single nucleotide variantPathogenicrs11538758GRCh37Chr 20, 4680180: 4680180
9PRNPNM_000311.3(PRNP): c.538G> A (p.Val180Ile)single nucleotide variantPathogenicrs74315408GRCh37Chr 20, 4680404: 4680404
10PRNPNM_000311.3(PRNP): c.695T> G (p.Met232Arg)single nucleotide variantPathogenicrs74315409GRCh37Chr 20, 4680561: 4680561
11PRNPNM_000311.3(PRNP): c.547A> G (p.Thr183Ala)single nucleotide variantPathogenicrs74315411GRCh37Chr 20, 4680413: 4680413
12PRNPNM_000311.3(PRNP): c.623G> A (p.Arg208His)single nucleotide variantPathogenicrs74315412GRCh37Chr 20, 4680489: 4680489
13PRNPNM_000311.3(PRNP): c.560A> G (p.His187Arg)single nucleotide variantPathogenicrs74315413GRCh37Chr 20, 4680426: 4680426
14PRNPNM_000311.3(PRNP): c.313C> A (p.Pro105Thr)single nucleotide variantPathogenicrs74315414GRCh37Chr 20, 4680179: 4680179
15PRNPNM_000311.3(PRNP): c.313C> T (p.Pro105Ser)single nucleotide variantPathogenicrs74315414GRCh37Chr 20, 4680179: 4680179
16PRNPNM_000311.3(PRNP): c.435T> G (p.Tyr145Ter)single nucleotide variantPathogenicrs80356710GRCh37Chr 20, 4680301: 4680301
17PRNPNM_000311.3(PRNP): c.478C> T (p.Gln160Ter)single nucleotide variantPathogenicrs80356711GRCh37Chr 20, 4680344: 4680344
18PRNPNM_000311.3(PRNP): c.532G> A (p.Asp178Asn)single nucleotide variantPathogenicrs74315403GRCh37Chr 20, 4680398: 4680398

Expression for genes affiliated with Genetic Prion Diseases

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Search GEO for disease gene expression data for Genetic Prion Diseases.

Pathways for genes affiliated with Genetic Prion Diseases

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Compounds for genes affiliated with Genetic Prion Diseases

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Sources:
45Novoseek, 26HMDB, 13DrugBank
See all sources

Compounds related to Genetic Prion Diseases according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1formate459.5PRNP, APOE
2guanidine45 26 1311.5APOE, PRNP
3guanidine hydrochloride459.4APOE, PRNP
4sodium dodecylsulfate459.4PRNP, APOE
5valine459.3PRNP, APOE
6glutamine459.1APOE, HLA-DQB1
7paraffin459.0PRNP, APOE
8histidine458.9HLA-DQB1, PRNP
9aspartate458.7PRNP, APOE, HLA-DQB1
10glutamate458.7PRNP, APOE, HLA-DQB1

GO Terms for genes affiliated with Genetic Prion Diseases

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Products for genes affiliated with Genetic Prion Diseases

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Genetic Prion Diseases

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet